Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.P1929fs
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EXPH5

NM_015065.3:p.P1929fs

Associated Papers

Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex.

Rashidghamat E et al.

The British Journal of Dermatology, 2016

Recently Identified Forms of Epidermolysis Bullosa.

McGrath JA

Annals of Dermatology, 2015

Mutations in EXPH5 result in autosomal recessive inherited skin fragility.

Liu L et al.

The British Journal of Dermatology, 2014

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

McGrath JA et al.

American Journal of Human Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."